April 3, 2014, Shenzhen, China - Chinese researchers from Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, BGI, and other institutions have discovered that the activating hotspot L205R mutation in PRKACA gene was closely associated with adrenocortical tumors (ACTs), and the relationship of recurrently mutated DOT1L and CLASP2 with ACTs' other subtypes. The latest study published online in Science opens a new insight into diagnosis and treatment of Adrenal Cushing's syndrome.

Adrenal Cushing's syndrome results from autonomous production of cortisol (ACTH-independent) from adrenocortical tumors (ACTs), which may lead to a series of metabolic disorders such as obesity, glucose intolerance and hypertension. However, the genetic architecture of Adrenal Cushing's syndrome remains largely uncharacterized, hampering the development of diagnostic and therapeutic approaches for Cushing's syndrome.

In this study, researchers performed whole-exome sequencing of 49 blood-tumor pairs and RNA sequencing of 44 tumors from cortisol-producing adrenocortical adenomas (ACAs), ACTH-independent macronodular adrenocortical hyperplasia (AIMAH), and adrenocortical oncocytoma (ADO). They found there was a hotspot L205R mutation in PRKACA gene, and two novel mutated genes that have never been reported: One is DOT1L, which may contribute the tumorigenesis of AIMAH; the other is HDAC9, which would be responsible for ADOs.

In the large-scale validation stage, researchers found that L205R mutation was only found in the ACTs, and located in the highly conserved functional domain-P+1 loop of PKA catalytic subunit-plays an important role in the combination of kinase and substrate. The further molecular and cell function validation proved that L205R mutation caused the increase of protein activity and enhanced the catalytic capability of the phosphorylation, and promoted the occurrence of tumor and the production of steroid by substrate phos'/>"/>

(Date:3/24/2015)... Markets ( http://www.researchandmarkets.com/research/kvdtcw/face_and_voice ) has announced the addition of ... report to their offering. This report analyzes the ... the following Segments: Face Biometrics, and Voice Biometrics. The report provides ... Japan , Europe , ... Africa , and Latin America ...

(Date:3/23/2015)... YORK , March 23, 2015 HOYOS ... property management company, today announced that the Company will ... for both enterprise and consumers at Connect:ID on March ... HOYOS Labs will highlight the IEEE Biometric ... TM ; and enterprise access control system. BOPS ...

... the developed world is forecast to lead to a dramatically ... for more people to enjoy healthy and active older age ... about how our bodies change as we age. To help ... the UK and US have joined forces to fund a ...

... University scientist, and graduate student Adrian Nestor have discovered ... faces. They determined that men tend to have more ... women. The finding has important implications in cognitive ... But the information also has a number of ...

... head-to-head mating contests but,diminutive males make ten times ... on their feet, a new study of redback ... of Journal of Evolutionary,Biology , the study ... paternity success. In field enclosures, researchers,simulated two competitive ...

(Date:3/31/2015)... 31, 2015 Sonoa Health, a health tech startup ... developed a world-first consumer health portal, Health&, which brings ... devices and more. Today, the Company appointed ... CEO, who brings to the table more than 18-years ... included working closely with the biggest names in Silicon ...

(Date:3/31/2015)... , March 31, 2015 University of ... Rogers will deliver the plenary session address on ... International Microwave Symposium (IMS) , kicking off a week ... growth at the intersection of RF and microwave technologies ... Assemblies of Radios, Sensors and Circuits for the Skin," ...

(Date:3/30/2015)... CA (PRWEB) March 30, 2015 With ... incentives provided you the government, major companies are getting ... local governments setting future mandates for renewable energy production, ... an option. , Solara Power is a new solar ... incentive programs available that allow qualifying homeowners to enjoy ...

(Date:3/30/2015)... NEW BRUNSWICK, N.J. , March 30, 2015 /PRNewswire-USNewswire/ ... research and innovation projects in the state of ... to its next round of grant funding, announced ... existing New Jersey Health Foundation Research Grants program, an ... to $35,000 each to fund early stage research projects ...

... Data Demonstrating a 35% Overall Response Rate with a ... Relapsed or Relapsed/Refractory Waldenstrom,s Macroglobulinemia to be Published in ... Journal of Clinical Cancer Research , QUÉBEC CITY, ... AEZS ; TSX: AEZ) (the "Company"), a late-stage ...

... (Nasdaq: COHR ), a world leader in providing photonics based solutions to the commercial and scientific research markets, today announced financial results for its ... , , ... Three Months Ended, ... GAAP Results January 2, ...

... Fc OxyBURST Green reagent (F-2902) was developed ... University to permit measurement of the kinetics ... subsequent oxidative burst directly in the phagovacuole.2 ... of bovine serum albumin (BSA) that has ...